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    Fras1 Fraser extracellular matrix complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 231470, updated on 9-Dec-2024

    Summary

    Official Symbol
    Fras1provided by MGI
    Official Full Name
    Fraser extracellular matrix complex subunit 1provided by MGI
    Primary source
    MGI:MGI:2385368
    See related
    Ensembl:ENSMUSG00000034687 AllianceGenome:MGI:2385368
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    bl; mKIAA1500; E130113P14Rik
    Summary
    Predicted to enable metal ion binding activity. Predicted to be an extracellular matrix structural constituent. Acts upstream of or within several processes, including embryonic limb morphogenesis; metanephros morphogenesis; and roof of mouth development. Located in basement membrane. Is expressed in several structures, including alimentary system; body cavity or lining; brain; sensory organ; and skin. Used to study Fraser syndrome and clubfoot. Human ortholog(s) of this gene implicated in Fraser syndrome 1. Orthologous to human FRAS1 (Fraser extracellular matrix complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 3.5), placenta adult (RPKM 2.7) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Fras1 in Genome Data Viewer
    Location:
    5 E3; 5 47.29 cM
    Exon count:
    75
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (96518622..96932592)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (96373777..96784733)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex, subunit 6-like Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:96589986-96590095 Neighboring gene STARR-positive B cell enhancer mm9_chr5:96592485-96592786 Neighboring gene STARR-positive B cell enhancer ABC_E2159 Neighboring gene STARR-positive B cell enhancer mm9_chr5:96638970-96639271 Neighboring gene STARR-positive B cell enhancer ABC_E10331 Neighboring gene STARR-positive B cell enhancer ABC_E6348 Neighboring gene STARR-seq mESC enhancer starr_13674 Neighboring gene STARR-seq mESC enhancer starr_13675 Neighboring gene mitochondrial ribosomal protein L1 Neighboring gene predicted gene, 33050 Neighboring gene STARR-seq mESC enhancer starr_13678 Neighboring gene predicted gene, 52781 Neighboring gene predicted gene, 32995 Neighboring gene STARR-seq mESC enhancer starr_13679 Neighboring gene STARR-positive B cell enhancer mm9_chr5:97283346-97283646 Neighboring gene annexin A3 Neighboring gene predicted gene, 33100

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (3)  1 citation
    • Endonuclease-mediated (3) 
    • Radiation induced (1) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    extracellular matrix organizing protein FRAS1
    Names
    Fraser syndrome 1 homolog
    Fraser syndrome 1 protein
    blebbed
    extracellular matrix protein FRAS1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_175473.3NP_780682.3  extracellular matrix organizing protein FRAS1 precursor

      See identical proteins and their annotated locations for NP_780682.3

      Status: VALIDATED

      Source sequence(s)
      AC101391, AC121829, AC122007, AC151985, AK051850
      Consensus CDS
      CCDS19450.1
      UniProtKB/Swiss-Prot
      E9QPG9, Q80T14, Q80TC7, Q811H8, Q8BPZ4
      Related
      ENSMUSP00000043250.5, ENSMUST00000036019.5
      Conserved Domains (10) summary
      smart00214
      Location:2786
      VWC; von Willebrand factor (vWF) type C domain
      smart00261
      Location:951995
      FU; Furin-like repeats
      cd00064
      Location:607652
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00093
      Location:220277
      VWC; von Willebrand factor type C domain
      pfam00757
      Location:759912
      Furin-like; Furin-like cysteine rich region
      pfam14843
      Location:511623
      GF_recep_IV; Growth factor receptor domain IV
      pfam15913
      Location:10081098
      Furin-like_2; Furin-like repeat, cysteine-rich
      pfam16184
      Location:22632408
      Cadherin_3; Cadherin-like
      cl02522
      Location:25552648
      Calx-beta; Calx-beta domain
      cl17735
      Location:368415
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      96518622..96932592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534873.5XP_006534936.1  extracellular matrix organizing protein FRAS1 isoform X1

      Conserved Domains (8) summary
      pfam03302
      Location:405732
      VSP; Giardia variant-specific surface protein
      smart00214
      Location:2786
      VWC; von Willebrand factor (vWF) type C domain
      smart00261
      Location:9971038
      FU; Furin-like repeats
      TIGR00845
      Location:25072762
      caca; sodium/calcium exchanger 1
      pfam00093
      Location:220277
      VWC; von Willebrand factor type C domain
      cl17735
      Location:368415
      VWC; von Willebrand factor type C domain
      pfam16184
      Location:22492360
      Cadherin_3; Cadherin-like
      cl02522
      Location:25072600
      Calx-beta; Calx-beta domain
    2. XM_017320847.3XP_017176336.1  extracellular matrix organizing protein FRAS1 isoform X3

      Conserved Domains (4) summary
      TIGR00845
      Location:15801835
      caca; sodium/calcium exchanger 1
      pfam15913
      Location:26123
      Furin-like_2; Furin-like repeat, cysteine-rich
      pfam16184
      Location:13221433
      Cadherin_3; Cadherin-like
      cl02522
      Location:20622156
      Calx-beta; Calx-beta domain
    3. XM_017320846.1XP_017176335.1  extracellular matrix organizing protein FRAS1 isoform X2

      Conserved Domains (4) summary
      pfam03302
      Location:27267
      VSP; Giardia variant-specific surface protein
      TIGR00845
      Location:17261981
      caca; sodium/calcium exchanger 1
      pfam16184
      Location:14681579
      Cadherin_3; Cadherin-like
      cl02522
      Location:22082302
      Calx-beta; Calx-beta domain